Mutations Position Table
PSEN1 I439 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| I439S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown, but MRI showed diffuse cortical atrophy in one case. |
Unknown, but PolyPhen analysis predicted the mutation is possibly damaging. |
Gómez-Tortosa et al., 2010 |
| I439V |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown. |
In vitro, moderately increased Aβ40 and Aβ42 production; Aβ42/Aβ40 ratio unchanged. In cells, increased Aβ42 secretion; Aβ42/Aβ40 unchanged.
|
Rogaeva et al., 2001 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.